Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence

Journal article

Background and Objectives Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a positive result undergo a definitive diagnostic test. We propose a framework to overcome this limitation and estimate the prevalence of disease, sensitivity of screening, and its yield relative to no screening.

Authors: Leal, J; Wordsworth, S; Oerton, J; Khalid, J; Dezateux, C

• Publisher: Elsevier
• Journal: Journal of Clinical Epidemiology
• Volume: 67
• Issue: 10
• Pages: 1131-1138
• Publication date: 2014-10-01
• DOI: 10.1016/j.jclinepi.2014.05.011
• EISSN: 1878-5921
• ISSN: 0895-4356
• Language: English
• Keywords: Medium chain acyl-CoA dehydrogenase deficiency; Inborn errors of metabolism; Screening; MCADD; Tandem mass spectrometry; Sensitivity